Canonical Allele Identifier: CA1435425037
Gene: EVC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628663G= , CM000666.2:g.5628663G= GRCh38
NC_000004.11:g.5630390G= , CM000666.1:g.5630390G= GRCh37
NC_000004.10:g.5681291G= NCBI36
NG_015821.1:g.85886C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1782C= MANE Select ENSP00000342144.5:p.His594=
ENST00000310917.6:c.1542C= ENSP00000311683.2:p.His514=
ENST00000344408.9:c.1782C= ENSP00000342144.5:p.His594=
ENST00000475313.5:c.1542C= ENSP00000431981.1:p.His514=
ENST00000509670.1:c.*175C= ENSP00000423876.1:n.*175C=
NM_001166136.1:c.1542C= NP_001159608.1:p.His514=
NM_147127.4:c.1782C= NP_667338.3:p.His594=
XM_011513392.1:c.1791C= XP_011511694.1:p.His597=
XM_011513393.1:c.1791C= XP_011511695.1:p.His597=
XM_011513394.1:c.1551C= XP_011511696.1:p.His517=
XM_017007736.1:c.1542C= XP_016863225.1:p.His514=
XM_017007737.1:c.1542C= XP_016863226.1:p.His514=
XM_017007738.1:c.1782C= XP_016863227.1:p.His594=
XM_017007739.1:c.102C= XP_016863228.1:p.His34=
XM_024453893.1:c.102C= XP_024309661.1:p.His34=
XR_001741141.1:n.1847C=
NM_147127.5:c.1782C= MANE Select NP_667338.3:p.His594=
NM_001166136.2:c.1542C= NP_001159608.1:p.His514=